PRENATAL DIAGNOSIS OF A DE NOVO PARTIAL TRISOMY 6q AND PARTIAL MONOSOMY 18p ASSOCIATED WITH CEPHALOCELE: A CASE REPORT


Karaman A., KARAMAN B. , Cetinkaya A., Karaman S., Demirci O.

BALKAN JOURNAL OF MEDICAL GENETICS, vol.23, no.1, pp.99-102, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 1
  • Publication Date: 2020
  • Doi Number: 10.2478/bjmg-2020-0014
  • Title of Journal : BALKAN JOURNAL OF MEDICAL GENETICS
  • Page Numbers: pp.99-102

Abstract

A 28-year-old woman underwent amniocentesis at 18 weeks' gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a de novo unbalanced translocation resulting in a gain in 6q and loss in 18p. A female infant was delivered at 38 weeks' gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting.